title: Carrier screening and prenatal diagnosis of hemoglobinopathies. A study of indigenous and immigrant couples in northern Greece, over the last 5 years.
abstract: Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and thalassemias are the most frequent genetic disorders in Greece. Over a 5-year period (2002-2006), 1,375 couples were screened for hemoglobinopathies and counseled at our Thalassaemia Prevention Unit, Hippokration Hospital, Thessaloniki, Greece. In 148 cases (10.7%), both partners carried an abnormal hemoglobin (Hb) gene and genetic counseling was offered. One hundred out of 116 pregnancies were at-risk of giving birth to an offspring carrying either the homozygous or double heterozygous forms of the mutations under discussion. The remaining 16 pregnancies involved couples who were heterozygous for mutations that did not cause severe clinical disease, and were exempted from prenatal diagnosis. Twenty-six fetuses were found to be homozygotes or double heterozygotes for clinically significant mutations. These couples were informed of the danger of having an affected child but the termination or continuation of the pregnancy was left to the couples to decide. Nevertheless, all the couples preferred to terminate the pregnancies. The National Thalassaemia Prevention Programme has effectively decreased the incidence of thalassemia major and sickle cell syndromes in Greece.
authors.affiliation: Haemoglobinopathy Prevention Unit, Hippokration Hospital, Thessaloniki, Greece. hmesogiaki@ippokratio.gr
authors.forename: Stamatia
authors.initials: S
authors.lastname: Theodoridou
authors.forename: Michael
authors.initials: M
authors.lastname: Alemayehou
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Prappas
authors.forename: Olga
authors.initials: O
authors.lastname: Karakasidou
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Aletra
authors.forename: Eleni
authors.initials: E
authors.lastname: Plata
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Tsaftaridis
authors.forename: Photini
authors.initials: P
authors.lastname: Karababa
authors.forename: Marina
authors.initials: M
authors.lastname: Boussiou
authors.forename: Klio
authors.initials: K
authors.lastname: Sinopoulou
authors.forename: Anna
authors.initials: A
authors.lastname: Hatzi
authors.forename: Ersi
authors.initials: E
authors.lastname: Voskaridou
authors.forename: Afroditi
authors.initials: A
authors.lastname: Loutradi
authors.forename: Anna
authors.initials: A
authors.lastname: Manitsa
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005191:Family Characteristics; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006115:Greece / Q000453:epidemiology; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics